Individual #00318144

ID_report Family 2
Reference PubMed: Honey et al., 2016
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SEMDJL1
Owner name Raymond Dalgleish
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Raymond Dalgleish


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319326 DNA ? - - B3GALT6 2 Raymond Dalgleish



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Maternal (confirmed) +/+? - likely pathogenic g.1167858C>T - - - B3GALT6_000033 - PubMed: Honey et al., 2016 - - Unknown - - - 0 - Raymond Dalgleish B3GALT6 - - - - - 1 NM_080605.3:c.200C>T - r.(?) p.(Pro67Leu) - - - - - - - - - missense substitution - - - - - - - -
1 Paternal (confirmed) +/+? - likely pathogenic g.1167893A>G - - - B3GALT6_000034 - PubMed: Honey et al., 2016 - - Unknown - - - 0 - Raymond Dalgleish B3GALT6 - - - - - 1 NM_080605.3:c.235A>G - r.(?) p.(Thr79Ala) - - - - - - - - - missense substitution - - - - - - - -
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